Millennials Help Scientists Transform Breast Cancer Research

What compels a twelve year old to commit to a five-year
research study? It’s a mixture of cool and curiosity. Just ask
Mackenzie Perry, who volunteered to participate in the largest breast
cancer study of its kind in Canada. Led by Mount Sinai scientists the
goal of the study is to understand the influence of behavior,
environment and diet on pubertal growth in girls aged six to 13 and how
these factors might impact their risk of breast cancer later in
life.

“My mom
told me about this project when she was diagnosed with breast cancer,”
said Mackenzie. “I just wondered…if your parent wasn’t diagnosed with
cancer, whether you still had a good chance of getting it. And because
my mom did have it, what that meant for me. I thought the study was
kind of cool.”

Mackenzie was just shy of her 13th birthday
when she signed up. Now every six months, she and her mother travel
from Stoney Creek, Ontario to downtown Toronto – an almost two-hour bus
ride – to fill out questionnaires and give blood, urine and saliva
samples.

The
research study, named the LEGACY Girls Study, looks at whether the habits and development
of young girls are related to breast health in older women. The unique
initiative will enroll an estimated 180 girls in Ontario as well as
their parent or guardian, and contact them every six months for follow
up. Like Mackenzie, half of the girls in the study will come from
families with a history of breast cancer, while the other half will
come from families with no history of the disease.

Drs.Irene AndrulisandJulia Knight, Senior Investigators at Mount Sinai’s
Samuel Lunenfeld Research Institute will have finished recruiting all
of the girls in the Canadian arm of the study in the first half of
2013. They are working closely with their American colleagues in San
Francisco’s Bay Area, New York, Philadelphia and Utah, which are also
all sites of the Breast Cancer Family Registry.

As a
molecular geneticist and also the principal investigator of the LEGACY
study, Dr.
Andrulis explores the clinical importance of genetic alterations to
identify risk factors and lifestyle modifications early enough to
prevent or diminish the effects of cancer. The ultimate goal is to
identify measures that could be taken to prevent breast cancer and to
identify novel targets for new cancer therapeutics.

“In
a previous study, we identified families with alterations in genes that
increase the risk of breast cancer. The women in that study asked us
how our efforts would help their daughters…and so that’s partly how the
LEGACY study came about,” said Dr. Andrulis. “We designed the LEGACY
study to find out what other factors are involved in breast health in
addition to the genes we know about – factors such as diet, lifestyle,
physical activity, even levels of Vitamin D.”

In
addition to collecting questionnaires and biospecimens, the LEGACY
study staff are also studying the breast tissue composition of these
young girls when they are assessed for body measurements during each
visit, using a technique called optical spectroscopy. The technique –
developed by Dr. Lothar Lilge, Senior Scientist at the Ontario Cancer
Institute and also one of the study’s investigators – involves holding
a light probe over parts of the breast for about 30 seconds. From this,
different wavelengths of light can provide information about the
breast’s water and fat composition.

Dr. Julia
Knight, an epidemiologist and co-principal investigator of the
LEGACY study, will analyze the study’s results when enough baseline
data has been gathered this year. She is working to bring the optical
spectroscopy tool to Mount Sinai’s Prosserman Centre for Health
Research.

“Optical
spectroscopy is actually one of the few tools we have to gather data on
changes in breast health as these girls mature into young women. With
this new tool, we will be able to quantify how much variation there is
in fat, water, and collagen in breast tissue over time and we hope that
this will tell us about breast cancer risk at an early stage,” said Dr.
Knight. “Compared to mammography, which carries significant radiation
exposure for a young woman, optical spectroscopy is harmless and gives
us a way to see what’s changing in the breast tissue very early
on.”

Danielle
Hanna, a certified genetic counselor at the Ontario Familial Breast
Cancer Registry and co-ordinator of the LEGACY Girls Study, commented
that so far since the study began, not a single mother/daughter pair
has dropped out. Although the two-hour assessment is typically long for
a study visit, interactive aspects of the visit keep the young girls
engaged.

“The
girls participate in what we call our Junior Scientist Program, which
takes place after the assessments and questionnaires wrap up. It’s a
big draw for the girls because they’re taken into a real lab here at
Mount Sinai and actually get to see how their samples are processed for
the study. They also get to participate in hands-on activities using
actual lab equipment. In a way, we’re mentoring future scientists,”
said Danielle.

Funded
by the U.S. National Institutes of Health (NIH), the LEGACY Girls Study
will potentially create a recipe for a number of preventive measures
that girls can follow as early as age six, in order to reduce their
risk for breast cancer in the future.

Mackenzie admits that her habits are already
changing just from filling out the study questionnaires. “There are
questions that ask about how much exercise you do in a week, and it
makes me wonder if I am doing enough,” she said. Referring to her
friends who she also told about the study, and even helped recruit to
the control group, Mackenzie added thoughtfully, “I think we’re all
changing.”